Collagen, type XI, alpha 1

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COL11A1
Identifiers
Aliases COL11A1, collagen, type XI, alpha 1, CO11A1, COLL6, STL2, collagen type XI alpha 1, collagen type XI alpha 1 chain
External IDs MGI: 88446 HomoloGene: 56389 GeneCards: COL11A1
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for COL11A1
Genomic location for COL11A1
Band 1p21.1 Start 102,876,467 bp[1]
End 103,108,872 bp[1]
RNA expression pattern
PBB GE COL11A1 37892 at fs.png

PBB GE COL11A1 204320 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001190709
NM_001854
NM_080629
NM_080630

NM_007729

RefSeq (protein)

NP_001177638
NP_001845
NP_542196
NP_542197

NP_031755

Location (UCSC) Chr 1: 102.88 – 103.11 Mb Chr 3: 114.03 – 114.22 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.[5][6]

Function[edit]

The COL11A1 gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Three transcript variants encoding different isoforms have been identified for this gene.[6]

Clinical significance[edit]

Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.[6]

Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the COL11A1 gene. Features of Stickler syndrome type II include: sensorineural hearing loss, facial features (flat facial profile, anteverted nares, micrognathia), cleft palate, visual disturbances (type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment), spondyloepiphyseal dysplasia, and arthropathy.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000060718 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027966 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F (Dec 1988). "Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue". J Biol Chem. 263 (32): 17159–66. PMID 3182841. 
  6. ^ a b c "Entrez Gene: COL11A1 collagen, type XI, alpha 1". 

External links[edit]

Further reading[edit]